148 related articles for article (PubMed ID: 29544220)
1. Genotype-Phenotype Analysis, Neuropsychological Assessment, and Growth Hormone Response in a Patient with 18p Deletion Syndrome.
Sun H; Wan N; Wang X; Chang L; Cheng D
Cytogenet Genome Res; 2018; 154(2):71-78. PubMed ID: 29544220
[TBL] [Abstract][Full Text] [Related]
2. A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows.
Chen CP; Lin SP; Chern SR; Wu PS; Chen SW; Lai ST; Chuang TY; Chen WL; Wang W
Taiwan J Obstet Gynecol; 2018 Aug; 57(4):583-587. PubMed ID: 30122583
[TBL] [Abstract][Full Text] [Related]
3. The genotype and phenotype of chromosome 18p deletion syndrome: Case series.
Jin Q; Qiang R; Cai B; Wang X; Cai N; Zhen S; Zhai W
Medicine (Baltimore); 2021 May; 100(18):e25777. PubMed ID: 33950970
[TBL] [Abstract][Full Text] [Related]
4. GNAL deletion as a probable cause of dystonia in a patient with the 18p- syndrome.
Esposito F; Addor MC; Humm AM; Vingerhoets F; Wider C
Parkinsonism Relat Disord; 2014 Mar; 20(3):351-2. PubMed ID: 24405754
[No Abstract] [Full Text] [Related]
5. Intellectual, adaptive and behavioural characteristics in four patients with 18p deletion syndrome.
Mello CB; Bueno OFA; Benedetto LM; Pimenta LSE; Takeno SS; Melaragno MI; Meloni VA
J Intellect Disabil Res; 2019 Mar; 63(3):225-232. PubMed ID: 30536814
[TBL] [Abstract][Full Text] [Related]
6. [Genotypic and phenotypic analysis of a patient with de novo partial monosomy 18p and partial trisomy 18q].
Xiao B; Ji X; Ye H; Liu Y; Cao Y; Sun Y; Wei W; Qiu W
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 May; 36(5):484-487. PubMed ID: 31030439
[TBL] [Abstract][Full Text] [Related]
7. Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients.
Portnoï MF; Gruchy N; Marlin S; Finkel L; Denoyelle F; Dubourg C; Odent S; Siffroi JP; Le Bouc Y; Houang M
Clin Dysmorphol; 2007 Oct; 16(4):247-52. PubMed ID: 17786116
[TBL] [Abstract][Full Text] [Related]
8. Clinical Characteristics and Long-Term Recombinant Human Growth Hormone Treatment of 18q- Syndrome: A Case Report and Literature Review.
Liu S; Chen M; Yang H; Chen S; Wang L; Duan L; Zhu H; Pan H
Front Endocrinol (Lausanne); 2021; 12():776835. PubMed ID: 34956087
[TBL] [Abstract][Full Text] [Related]
9. Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation.
Wester U; Bondeson ML; Edeby C; Annerén G
Am J Med Genet A; 2006 Jun; 140(11):1164-71. PubMed ID: 16691587
[TBL] [Abstract][Full Text] [Related]
10. [Deletion on the short arm of chromosome 18 syndrome diagnosed by array comparative genomic hybridization. Presentation of one case with a mild phenotype].
Pachajoa H
Arch Argent Pediatr; 2016 Dec; 114(6):e448-e449. PubMed ID: 27869431
[TBL] [Abstract][Full Text] [Related]
11. Familial 18p deletion syndrome and 18p partial trisomy inherited from a mother with balanced translocation.
Koshy B; Mandal K; Srivastava VM; Loius PT; Danda S
Clin Dysmorphol; 2011 Jul; 20(3):148-151. PubMed ID: 21389850
[TBL] [Abstract][Full Text] [Related]
12. [Genotype and phenotype analysis of a child with partial 18q deletion syndrome].
Shi S; Guo L; Zha Q; Shi Z; Yang Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Aug; 34(4):567-570. PubMed ID: 28777861
[TBL] [Abstract][Full Text] [Related]
13. [Phenotypic and genetic analysis of a child featuring multiple malformations due to chromosome 18p deletion].
Pan Q; Hu P; Ou J; Jin X; Zhang F; Hu Y; Cheng L; Han L; Ning Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Oct; 32(5):695-9. PubMed ID: 26418989
[TBL] [Abstract][Full Text] [Related]
14. [Genetic analysis of a fetus with partial 18p tetraploidy syndrome].
Luo H; Xiao Q; Su W; Chen S; Jiang M; Xiao G
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Oct; 35(5):719-722. PubMed ID: 30298504
[TBL] [Abstract][Full Text] [Related]
15. Detection of a rare de novo 18p terminal deletion with inverted duplication in a Chinese pregnant woman.
Zhu J; Qi H; Cao S; Cai L; Wen X; Tang G; Wan Q; Chen C; Wang J; Zeng W; Luo Y
Mol Genet Genomic Med; 2019 Sep; 7(9):e868. PubMed ID: 31317671
[TBL] [Abstract][Full Text] [Related]
16. Subtelomeric deletion of 18p in an adult with paranoid schizophrenia and mental retardation.
Babovic-Vuksanovic D; Jenkins SC; Ensenauer R; Newman DC; Jalal SM
Am J Med Genet A; 2004 Jan; 124A(3):318-22. PubMed ID: 14708108
[TBL] [Abstract][Full Text] [Related]
17. Cytogenetic, Molecular, and Phenotypic Characterization of a Patient with de novo Derivative Chromosome 18 and Review of the Literature.
Gökpınar İli E; Altıner Ş; Karabulut HG
Cytogenet Genome Res; 2019; 159(2):74-80. PubMed ID: 31658462
[TBL] [Abstract][Full Text] [Related]
18. A case of de novo 18p deletion syndrome with panhypopituitarism.
Yang A; Kim J; Cho SY; Lee JE; Kim HJ; Jin DK
Ann Pediatr Endocrinol Metab; 2019 Mar; 24(1):60-63. PubMed ID: 30943682
[TBL] [Abstract][Full Text] [Related]
19. Craniofacial and Neurological Phenotype in a Patient with De Novo 18q Microdeletion and 18p Microduplication.
Yapijakis C; Angelopoulou A; Manolakos E; Voumvourakis C
Adv Exp Med Biol; 2020; 1195():163-166. PubMed ID: 32468472
[TBL] [Abstract][Full Text] [Related]
20. Cognitive and behavioral phenotype of a young man with a chromosome 13 deletion del(13)(q21.32q31.1).
Matute E; Inozemtseva O; Aguilar-Lemarroy A; Jave-Suarez LF; Della Mina E; Zuffardi O; Rivera H
Cogn Behav Neurol; 2012 Sep; 25(3):154-8. PubMed ID: 22960441
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
